ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)

dbSNP: rs2077523952
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278342 SCV001465346 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-04-11 no assertion criteria provided clinical testing

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